Revel Score:
ENST00000265104 (MANE Select)
0.518
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13708130C>A , CM000667.2:g.13708130C>A | GRCh38 |
| NC_000005.9:g.13708239C>A , CM000667.1:g.13708239C>A | GRCh37 |
| NC_000005.8:g.13761239C>A | NCBI36 |
| NG_013081.1:g.241351G>T | |
| NG_013081.2:g.241351G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.664G>T | ||
| ENST00000265104.5:c.13331G>T MANE Select | ENSP00000265104.4:p.Trp4444Leu | |
| ENST00000681290.1:c.13286G>T | ENSP00000505288.1:p.Trp4429Leu | |
| ENST00000265104.4:c.13331G>T | ENSP00000265104.4:p.Trp4444Leu | |
| NM_001369.2:c.13331G>T | NP_001360.1:p.Trp4444Leu | |
| XM_005248262.2:c.13286G>T | XP_005248319.1:p.Trp4429Leu | |
| XM_005248262.3:c.13439G>T | XP_005248319.2:p.Trp4480Leu | |
| XM_017009177.1:c.13019G>T | XP_016864666.1:p.Trp4340Leu | |
| XM_017009178.1:c.12344G>T | XP_016864667.1:p.Trp4115Leu | |
| XM_017009179.2:c.12344G>T | XP_016864668.1:p.Trp4115Leu | |
| XM_017009185.1:c.8528G>T | XP_016864674.1:p.Trp2843Leu | |
| XM_017009186.1:c.8081G>T | XP_016864675.1:p.Trp2694Leu | |
| XM_017009188.1:c.7418G>T | XP_016864677.1:p.Trp2473Leu | |
| XM_024454388.1:c.12344G>T | XP_024310156.1:p.Trp4115Leu | |
| XM_024454389.1:c.11933G>T | XP_024310157.1:p.Trp3978Leu | |
| NM_001369.3:c.13331G>T MANE Select | NP_001360.1:p.Trp4444Leu |